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Photo of Dr. Jill Fahrner

Jill Ann Fahrner, M.D., Ph.D.

Assistant Residency Program Director, Johns Hopkins Genetic Medicine Residency Program
Assistant Professor of Pediatrics

Female  | Languages: English, French

Appointment Phone

410-955-3071

Main Location

The Johns Hopkins Hospital

Out-of-State & International Patients +
Out of State Patients

Call 410-464-6641 (8a.m. to 6p.m., EST, Mon-Fri)

Learn more about our out-of-state patient services »

International Patients

Call +1-410-502-7683 (7a.m. to 6p.m., EST, Mon-Fri)

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Titles

  • Assistant Residency Program Director, Johns Hopkins Genetic Medicine Residency Program
  • Assistant Professor of Pediatrics

Centers & Institutes

Departments

Locations

The Johns Hopkins Hospital

Appointment Phone: 410-955-3071

600 N. Wolfe Street
Sheikh Zayed Tower
Baltimore, MD 21287 map
Phone: 410-955-3071

Expertise

Medical Genetics

Biography

Dr. Jill Ann Fahrner is an assistant professor of pediatrics at the Johns Hopkins University School of Medicine. Her areas of clinical expertise include medical genetics. 

Dr. Fahrner earned her M.D. from the University of North Carolina and completed a pediatrics residency at Duke University Medical Center. She joined the McKusick-Nathans Institute of Genetic Medicine as a genetic medicine resident in 2009 and completed her training in 2012. She stayed on as chief resident from 2012-2013 and then joined the faculty as an assistant professor in the Department of Pediatrics within the McKusick-Nathans Institute of Genetic Medicine in 2013. 

Her research focuses on abnormal growth. She examines how a mutation in the EZH2, a component of the epigenetic machinery, leads to Weaver syndrome, a genetic disorder characterized by excessive skeletal and organ growth, as well as intellectual disability.

She has received the Margaret Ellen Nielsen Fellowship Award and the Alice and YT Chen Travel Award while at Johns Hopkins, and she is currently an assistant residency program director for the Johns Hopkins Genetic Medicine Residency Program.

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    Additional Information

  • Education +

    Degrees

    • University of North Carolina School of Medicine / MD (2006)

    Residencies

    • Duke University School of Medicine / Pediatrics (2009)
    • Johns Hopkins University School of Medicine (2011)

    Fellowships

    • Johns Hopkins University School of Medicine (2012)
    • Johns Hopkins University School of Medicine / Genetics (2013)

    Certifications

    • American Board of Medical Genetics / Clinical Genetics / MD (2013)
  • Research & Publications +

    Research Summary

    Dr. Fahrner’s has a long-standing interest in epigenetics. She did her thesis research with Dr. Stephen B. Baylin in the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins. Her graduate work culminated in multiple publications in the field of cancer epigenetics and in a thesis entitled “Aberrant epigenetic silencing of tumor suppressor genes in human cancer: the roles of DNA hypermethylation and the histone code.”

    Her current research focuses on abnormal growth caused by aberrations in the epigenetic machinery. In the McKusick-Nathans Epigenetics and Chromatin Clinic, she studies how a mutation in the EZH2 gene leads to Weaver syndrome, a genetic disorder characterized by rapid growth and intellectual disability.

    Lab:

    The mission of the McKusick-Nathans Epigenetics and Chromatin Clinic (ECC) is to:

    • Diagnose and provide optimal care for patients with either classical epigenetic disorders or mutations of the epigenetic machinery.
    • Learn from our patients some fundamental truths about epigenetics with the hope that this additional knowledge will lead to therapeutic development for our patients in the future.
    • Educate health providers and patients about epigenetics and the disorders of the epigenetic machinery.
  • Academic Affiliations & Courses +
  • Activities & Honors +

    Honors

    • Alice and YT Chen Travel Award, Johns Hopkins
    • Margaret Ellen Nielsen Fellowship Award, Johns Hopkins
  • Videos & Media +
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